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FERRERO E
Collezione AOU Città della Salute di Torino

  

Items : 9

The ELOVL proteins: Very and ultra long-chain fatty acids at the crossroads between metabolic and neurodegenerative disorders. in Molecular genetics and metabolism / Mol Genet Metab. 2025 Mar;144(3):109050. doi: 10.1016/j.ymgme.2025.109050. Epub 2025 Feb 4.
2025
AOU Città della Salute di Torino

Ferrero E; Vaz FM; Cheillan D; Brusco A; Marelli C;

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity. in HGG advances / HGG Adv. 2024 Jul 18;5(3):100309. doi: 10.1016/j.xhgg.2024.100309. Epub 2024 May 15.
2024
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Mussa A; Banka S; Jenkinson S; Metcalfe K; Campbell CM; Sukarova-Angelovska E; Pasini B; Petlichkovski A; McConkey H; Rooney K; Rzasa J; Dimartino P; Pippucci T; Giorgio E; Rinninella A; Pullano V; Cardaropoli S; Carestiato S; Mandrile G; Palermo F; Marinoni R; Carli D; Di Gregorio E; Ferrero E; Giovenino C; Pavinato L; Rossi Sebastiano M; Trajkova S; Kerkhof J; et alii...

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes. in European journal of human genetics : EJHG / Eur J Hum Genet. 2023 Nov;31(11):1228-1236. doi: 10.1038/s41431-023-01324-w. Epub 2023 Mar 6.
2023
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Ferrero GB; Delledonne M; Rossato M; Tartaglia M; Pippucci T; De Rubeis S; Buxbaum JD; Pasini B; Mandrile G; Bruselles A; Froukh T; Dimartino P; Mussa A; Palermo F; Carli D; Battaglia A; Bertoli L; Fadda A; Rinninella A; Salmin P; Carestiato S; Sukarova-Angelovska E; Ferrero E; Brusco A; Pullano V; Cardaropoli S; Pavinato L; Trajkova S; Giovenino C; et alii...

Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot. in Human genetics / Hum Genet. 2023 Aug;142(8):1055-1076. doi: 10.1007/s00439-023-02572-y. Epub 2023 May 18.
2023
AOU Città della Salute di Torino

Borroni B; Caruso D; Tempia F; Mitro N; Rossi Sebastiano M; Pozzi E; Costanzi C; Hoxha E; Manes M; Tripathy D; Mancini C; Pavinato L; Di Campli A; Moon YA; Ortolan E; Ferrero M; Di Gregorio E; Ferrero E; Basso M; Sallese M; Brusco A;

2021
AOU Città della Salute di Torino

Yakymiv Y; Augeri S; Bracci C; Marchisio S; Aydin S; D'Ardia S; Massaia M; Ferrero E; Ortolan E; Funaro A;

Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity. in Neurobiology of disease / Neurobiol Dis. 2019 Apr;124:14-28. doi: 10.1016/j.nbd.2018.10.018. Epub 2018 Oct 30.
2019
AOU Città della Salute di Torino

Battersby BJ; Gasparre G; Turco E; Altruda F; Casari G; Ferrero M; Riberi E; Pozzi E; Di Gregorio E; Giorgio E; Cavalieri S; Donetti E; Arnaboldi F; Geuna S; Ronchi G; Muratori L; Maltecca F; Nicolò V; Gondor Morosini DI; Parolisi R; Cagnoli C; Montarolo F; Richter U; Brussino A; Iommarini L; Mancini C; Hoxha E; Porcelli AM; Ferrero E; et alii...

Hypotonic-hyporesponsive episodes after administration of hexavalent DTP-based combination vaccine: A description of 12 cases. in Human vaccines & immunotherapeutics / Hum Vaccin Immunother. 2017 Jun 3;13(6):1-4. doi: 10.1080/21645515.2017.1287642. Epub 2017 Feb 21.
2017
AOU Città della Salute di Torino

Vigo A; Costagliola G; Ferrero E; Noce S;

Increasing efficacy of endovascular recanalization with covered stent graft for TransAtlantic Inter-Society Consensus II D aortoiliac complex occlusion. in Journal of vascular surgery / J Vasc Surg. 2015 Nov;62(5):1219-26. doi: 10.1016/j.jvs.2015.06.218. Epub 2015 Sep 26.
2015
AO Ordine Mauriziano
AOU Città della Salute di Torino

Ricceri F; Trucco A; Singh Bahia S; Viazzo A; Ferri M; Ferrero E; Psacharopulo D; Nessi F;

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD). in Human molecular genetics / Hum Mol Genet. 2015 Jun 1;24(11):3143-54. doi: 10.1093/hmg/ddv065. Epub 2015 Feb 20.
2015
AOU Città della Salute di Torino

Giorgio E; Robyr D; Spielmann M; Ferrero E; Di Gregorio E; Imperiale D; Vaula G; Stamoulis G; Santoni F; Atzori C; Gasparini L; Ferrera D; Canale C; Guipponi M; Pennacchio LA; Antonarakis SE; Brussino A; Brusco A;